A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1236e59



Internal ID22762456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39033511..39033653hg38UCSC Ensembl
chr14:39502715..39502857hg19UCSC Ensembl
chr14:38572466..38572608hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38143
hg19143
hg18143
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302505, esv3302847
SamplesNA18502, NA11995, NA18861, NA18508, NA10851, NA18507, NA18545, NA12004, NA18870, NA18526, NA07357, NA18563, NA19005, NA18944, NA18519, NA18489, NA12891, NA18558, NA18916, NA18582, NA12287, NA19138, NA18498, NA18949, NA12156, NA19137, NA19238, NA12044, NA11994, NA19239, NA12828, NA18638, NA11993, NA18951, NA12489, NA12878, NA18956, NA18948, NA18907, NA18566, NA19114, NA18499, NA12892, NA18532, NA19099, NA19225, NA12144, NA18523, NA18570, NA18858, NA18945, NA12043, NA18608, NA18542, NA18909, NA11881, NA19108, NA18952, NA19147, NA18517, NA19240, NA07051, NA18943, NA07037, NA18501, NA12749, NA19093, NA18505, NA19129, NA12006, NA18511, NA18522, NA12776, NA18965, NA18577
Known GenesSEC23A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1236e59
Frequency
Sample Size185
Observed Gain75
Observed Loss0
Observed Complex0
Frequencyn/a


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